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New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

2017

Item does not contain fulltext Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic ne…

0301 basic medicineMaleIntraocular pressuregenetic structuresOptic diskGlaucomaPROTEINGenome-wide association studyIDENTIFIES 5Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Optic neuropathyOptic Nerve DiseasesPROSTATEGenetics (clinical)RISKAssociation Studies ArticlesCOMMON VARIANTSGeneral MedicineMiddle AgedCANCER3. Good healthmedicine.anatomical_structureOptic nerveFemaleGlaucoma Open-AngleOptic discCyclin-Dependent Kinase Inhibitor p21medicine.medical_specialtyOpen angle glaucomaSUSCEPTIBILITY LOCIOptic Disk610 Medicine & healthBiology03 medical and health sciencesTonometry OcularOphthalmologyGeneticsmedicineHumansGENOME-WIDE ASSOCIATIONMolecular BiologyIntraocular PressureHomeodomain ProteinsP53Genome HumanPOPULATION-BASED EPIDEMIOLOGYZebrafish Proteinsmedicine.diseaseeye diseases030104 developmental biologysense organsGenome-Wide Association StudyHuman Molecular Genetics
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Knockdown of Drosophila hemoglobin suggests a role in O2 homeostasis.

2016

Almost all insects are equipped with a tracheal system, which appears to be sufficient for O2 supply even in phases of high metabolic activity. Therefore, with the exception of a few species dwelling in hypoxic habitats, specialized respiratory proteins had been considered unnecessary in insects. The recent discovery and apparently universal presence of intracellular hemoglobins in insects has remained functionally unexplained. The fruitfly Drosophila melanogaster harbors three different globin genes (referred to as glob1-3). Glob1 is the most highly expressed globin and essentially occurs in the tracheal system and the fat body. To better understand the functions of insect globins, the lev…

0301 basic medicineMaleParaquatTransgenemedia_common.quotation_subjectInsectBiochemistry03 medical and health sciencesHemoglobinsRNA interferenceAnimalsDrosophila ProteinsHomeostasisGlobinMolecular Biologymedia_commonGeneticschemistry.chemical_classificationGene knockdownReactive oxygen speciesbiologyfungiGene Expression Regulation Developmentalbiology.organism_classificationCell biologyGlobinsOxygenOxidative Stress030104 developmental biologyDrosophila melanogasterchemistryInsect ScienceGene Knockdown TechniquesLarvaFemaleRNA InterferenceDrosophila melanogasterReactive Oxygen SpeciesHomeostasisInsect biochemistry and molecular biology
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The gliotransmitter ACBP controls feeding and energy homeostasis via the melanocortin system

2019

International audience; Glial cells have emerged as key players in the central control of energy balance and etiology of obesity. Astrocytes play a central role in neural communication via the release of gliotransmitters. Acyl-CoA binding protein (ACBP)-derived endozepines are secreted peptides that modulate the GABAA receptor. In the hypothalamus, ACBP is enriched in arcuate nucleus (ARC) astrocytes, ependymocytes and tanycytes. Central administration of the endozepine octadecaneuropeptide (ODN) reduces feeding and improves glucose tolerance, yet the contribution of endogenous ACBP in energy homeostasis is unknown. We demonstrated that ACBP deletion in GFAP+ astrocytes, but not in Nkx2.1-l…

0301 basic medicineMalePro-OpiomelanocortinGliotransmitter[SDV]Life Sciences [q-bio][SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyHyperphagiaEnergy homeostasisCell Lineneuroscience03 medical and health sciencesEatingMice0302 clinical medicineProopiomelanocortinCentral melanocortin systemmedicine[SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]AnimalsObesityComputingMilieux_MISCELLANEOUSDiazepam Binding InhibitorMice KnockoutNeuronsArc (protein)biologyChemistryGABAA receptorGeneral MedicineViral rescue[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismCell biology030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisAstrocytesbiology.proteinFemale[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]MelanocortinEnergy Metabolismmetabolism[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyResearch Article
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Mitochondrial Fatty Acid β-Oxidation Inhibition Promotes Glucose Utilization and Protein Deposition through Energy Homeostasis Remodeling in Fish.

2020

BACKGROUND: Fish cannot use carbohydrate efficiently and instead utilize protein for energy supply, thus limiting dietary protein storage. Protein deposition is dependent on protein turnover balance, which correlates tightly with cellular energy homeostasis. Mitochondrial fatty acid β-oxidation (FAO) plays a crucial role in energy metabolism. However, the effect of remodeled energy homeostasis caused by inhibited mitochondrial FAO on protein deposition in fish has not been intensively studied. OBJECTIVES: This study aimed to identify the regulatory role of mitochondrial FAO in energy homeostasis maintenance and protein deposition by studying lipid, glucose, and protein metabolism in fish. M…

0301 basic medicineMaleProtein metabolismMedicine (miscellaneous)MitochondrionEnergy homeostasis03 medical and health scienceschemistry.chemical_compoundNile tilapia0302 clinical medicineAdjuvants ImmunologicmedicineAnimalsHomeostasisInsulinCarnitineProtein kinase ACells CulturedZebrafishNutrition and DieteticsbiologyCarnitine O-PalmitoyltransferaseChemistryFatty AcidsProtein turnoverProteinsMetabolismCichlidsDNACytochromes bbiology.organism_classificationMitochondria030104 developmental biologyGlucoseBiochemistryMutationHepatocytesNutrient Physiology Metabolism and Nutrient-Nutrient InteractionsEnergy MetabolismOxidation-Reduction030217 neurology & neurosurgerymedicine.drugMethylhydrazinesThe Journal of nutrition
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

2016

International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH …

0301 basic medicineMale[ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/PediatricsHaploinsufficiencycerebral hypomyelinationwest-syndromeBioinformaticsCraniofacial Abnormalities0302 clinical medicineIntellectual disabilitySTXBP1ChildGenetics (clinical)Nail patella syndromeGeneticsEndoglinSyndrome3. Good healthdevelopmental delayPhenotypeintellectual disabilityMedical geneticsFemaleChromosome DeletionHaploinsufficiencyChromosomes Human Pair 9medicine.medical_specialtyAdolescentLIM-Homeodomain ProteinsBiologyContiguous gene syndromeArticle03 medical and health sciencesMunc18 ProteinsGenetic linkageGeneticsmedicineHumansde-novo mutations[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/PediatricsdiseaseEpilepsyinfantile epileptic encephalopathyassociationdeletionsmedicine.diseaseHuman genetics030104 developmental biologynail-patella syndrome030217 neurology & neurosurgeryTranscription Factors
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Whole-blood transcriptome profiling reveals signatures of metformin and its therapeutic response

2020

Metformin, a biguanide agent, is the first-line treatment for type 2 diabetes mellitus due to its glucose-lowering effect. Despite its wide application in the treatment of multiple health conditions, the glycemic response to metformin is highly variable, emphasizing the need for reliable biomarkers. We chose the RNA-Seq-based comparative transcriptomics approach to evaluate the systemic effect of metformin and highlight potential predictive biomarkers of metformin response in drug-naive volunteers with type 2 diabetes in vivo. The longitudinal blood-derived transcriptome analysis revealed metformin-induced differential expression of novel and previously described genes involved in cholester…

0301 basic medicineMaleendocrine system diseasesMolecular biologyGene ExpressionType 2 diabetesPharmacologyBiochemistryTranscriptome0302 clinical medicineEndocrinologyMedical ConditionsSequencing techniquesGastrointestinal CancersBreast TumorsMedicine and Health SciencesHomeostasisEnergy-Producing OrganellesWhole bloodMultidisciplinarySmall nuclear RNABiguanideQRRNA sequencingGenomicsMiddle AgedMetforminMetforminMitochondriaType 2 DiabetesNucleic acidsCholesterolSmall nucleolar RNAOncology030220 oncology & carcinogenesisMedicineFemaleCellular Structures and OrganellesTranscriptome Analysismedicine.drugResearch Articlemedicine.drug_classEndocrine DisordersScienceGastroenterology and HepatologyBioenergetics03 medical and health sciencesBreast CancermedicineGeneticsDiabetes MellitusHumansNon-coding RNAGlycemicAgedbusiness.industryGene Expression ProfilingType 2 Diabetes Mellitusnutritional and metabolic diseasesBiology and Life SciencesComputational BiologyCancers and NeoplasmsCell Biologymedicine.diseaseGenome AnalysisGene regulationGene expression profilingResearch and analysis methods030104 developmental biologyMolecular biology techniquesMetabolic DisordersRNAbusinessBlood Chemical AnalysisPLoS ONE
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Nonacidic Farnesoid X Receptor Modulators.

2017

As a cellular bile acid sensor, farnesoid X receptor (FXR) participates in regulation of bile acid, lipid and glucose homeostasis, and liver protection. Clinical results have validated FXR as therapeutic target in hepatic and metabolic diseases. To date, potent FXR agonists share a negatively ionizable function that might compromise their pharmacokinetic distribution and behavior. Here we report the development and characterization of a high-affinity FXR modulator not comprising an acidic residue.

0301 basic medicineMalemedicine.drug_classPyridinesPeroxisome proliferator-activated receptorReceptors Cytoplasmic and NuclearATP-binding cassette transporterCholesterol 7 alpha-hydroxylase01 natural sciencesRats Sprague-Dawley03 medical and health sciencesStructure-Activity RelationshipDrug StabilityDrug DiscoverymedicineGlucose homeostasisAnimalsHumansPPAR alphaReceptorCholesterol 7-alpha-HydroxylaseATP Binding Cassette Transporter Subfamily B Member 11chemistry.chemical_classificationBile acid010405 organic chemistryChemistryHEK 293 cellsImidazolesMembrane Transport ProteinsHep G2 Cells0104 chemical sciencesMolecular Docking SimulationZolpidem030104 developmental biologyHEK293 CellsBiochemistryMolecular MedicineFarnesoid X receptorATP-Binding Cassette TransportersSterol Regulatory Element Binding Protein 1HeLa CellsJournal of medicinal chemistry
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Adipocyte cannabinoid receptor CB1 regulates energy homeostasis and alternatively activated macrophages.

2017

Dysregulated adipocyte physiology leads to imbalanced energy storage, obesity, and associated diseases, imposing a costly burden on current health care. Cannabinoid receptor type-1 (CB1) plays a crucial role in controlling energy metabolism through central and peripheral mechanisms. In this work, adipocyte-specific inducible deletion of the CB1 gene (Ati-CB1- KO) was sufficient to protect adult mice from diet-induced obesity and associated metabolic alterations and to reverse the phenotype in already obese mice. Compared with controls, Ati-CB1-KO mice showed decreased body weight, reduced total adiposity, improved insulin sensitivity, enhanced energy expenditure, and fat depot-specific cell…

0301 basic medicineMalemedicine.medical_specialtyCannabinoid receptorMacrophageAdipose Tissue WhiteAdipose tissueEnergy homeostasisMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicineReceptor Cannabinoid CB1Internal medicineAdipocyteBrown adipose tissueHomeostasiCannabinoid receptor type 2medicineAdipocytesAnimalsHomeostasisObesityCannabisMice KnockoutAdipocyteAnimalMedicine (all)MacrophagesBody WeightGeneral MedicineMacrophage ActivationEndocannabinoid systemMice Inbred C57BL030104 developmental biologyEndocrinologymedicine.anatomical_structurechemistryOrgan SpecificityCommentaryEnergy IntakeEnergy MetabolismTranscriptome030217 neurology & neurosurgeryHomeostasisResearch ArticleThe Journal of clinical investigation
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Preferred Music Listening Intervention in Nursing Home Residents with Cognitive Impairment: A Randomized Intervention Study.

2019

Background The current trend in addressing symptoms of dementia comprises non-pharmacological strategies such as music interventions for the management and improvement of cognitive function, memory, agitation, depression, or anxiety. Objective To determine the impact of a preferred music listening group intervention upon the functional, cognitive, and emotional dimensions in nursing home residents. Methods A randomized intervention study was carried out. The study was conducted from June to August 2015, and involved a preferred music listening group intervention lasting 60 minutes, 5 days/week during 8 weeks. A total of 119 adults aged ≥65 years, with annual permanent residence in the nursi…

0301 basic medicineMalemedicine.medical_specialtyPsychological intervention03 medical and health sciences0302 clinical medicineIntervention (counseling)medicineDementiaHomes for the AgedHumansCognitive DysfunctionMusic TherapyDepression (differential diagnoses)AgedAged 80 and overbusiness.industryGeneral NeuroscienceTinetti testCognitionPatient PreferenceGeneral Medicinemedicine.diseasehumanitiesNursing HomesPsychiatry and Mental healthClinical Psychology030104 developmental biologySpainPhysical therapyAuditory PerceptionAnxietyResidenceFemaleGeriatrics and Gerontologymedicine.symptombusiness030217 neurology & neurosurgeryFollow-Up StudiesJournal of Alzheimer's disease : JAD
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Delirium Predisposing and Triggering Factors in Nursing Home Residents: A Cohort Trial-Nested Case-Control Study.

2019

Background Delirium is a common geriatric syndrome, with a prevalence of between 15-70% among older long-term care residents. It is associated with adverse outcomes, and its onset may prove imperceptible to health professionals. Few studies in institutionalized older people have analyzed the predictors of delirium. Objective The aim of the present study was to identify delirium predisposing and triggering factors, and develop a predictive model. Methods A cohort trial-nested case-control study covering a period of 12 consecutive months (April 2015 - March 2016) was carried out. Predisposing and triggering episodes of delirium were recorded. Results A total of 443 older persons were recruite…

0301 basic medicineMalemedicine.medical_specialtymedicine.drug_classPsychological interventionCholinergic AntagonistsCohort Studies03 medical and health sciences0302 clinical medicinemental disordersAnticholinergicmedicineDementiaHomes for the AgedHumansAgedAged 80 and overbusiness.industryGeneral NeuroscienceIncidence (epidemiology)Area under the curveDeliriumGeneral Medicinemedicine.diseasePrecipitating FactorsNursing HomesPsychiatry and Mental healthClinical Psychology030104 developmental biologyCase-Control StudiesCohortNested case-control studyEmergency medicineDeliriumAccidental FallsDementiaFemaleGeriatrics and Gerontologymedicine.symptombusiness030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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